'Sequencing-grade' screening for BRCA1 variants by oligo-arrays
| Autor: | Francesco M. Marincola, Angelo Paradiso, Stefania Tommasi, Alessandro Monaco, Ena Wang, Yingdong Zhao, Marianna Sabatino, Ross M. Fasano, Filippo Menolascina |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
DNA Mutational Analysis
lcsh:Medicine Single-nucleotide polymorphism Breast Neoplasms Biology Genome Polymorphism Single Nucleotide Sensitivity and Specificity General Biochemistry Genetics and Molecular Biology SNP Chromosomes Human Humans Gene Genotyping Oligonucleotide Array Sequence Analysis Genetics Medicine(all) Ovarian Neoplasms Base Sequence Biochemistry Genetics and Molecular Biology(all) BRCA1 Protein Genome Human Point mutation lcsh:R Methodology Reproducibility of Results General Medicine Human genetics Human genome Female |
| Zdroj: | Journal of Translational Medicine Journal of Translational Medicine, Vol 6, Iss 1, p 64 (2008) |
| ISSN: | 1479-5876 |
| Popis: | The need for fast, efficient, and less costly means to screen genetic variants associated with disease predisposition led us to develop an oligo-nucleotide array-based process for gene-specific single nucleotide polymorphism (SNP) genotyping. This cost-effective, high-throughput strategy has high sensitivity and the same degree of accuracy as direct sequencing, the current gold standard for genetic screening. We used the BRCA1 breast and ovarian cancer predisposing gene model for the validation of the accuracy and efficiency of our strategy. This process could detect point mutations, insertions or deletions of any length, of known and unknown variants even in heterozygous conditions without affecting sensitivity and specificity. The system could be applied to other disorders and can also be custom-designed to include a number of genes related to specific clinical conditions. This system is particularly useful for the screening of long genomic regions with relatively infrequent but clinically relevant variants, while drastically cutting time and costs in comparison to high-throughput sequencing. |
| Databáze: | OpenAIRE |
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